K34* (p.Lys34Ter) variant of TSC2 (Tuberin)
K34* (p.Lys34Ter) in TSC2 (Tuberin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
K34* (p.Lys34Ter) variant details
- p.Lys34Ter
- Ensembl rs2084680573
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available